Linked Data
ClinVar Variation Id:
357759
dbSNP Id:
rs181146743
gnomAD v2:
6-66349752-C-T
gnomAD v3:
6-65639859-C-T
gnomAD v4:
6-65639859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65639859C>T , CM000668.2:g.65639859C>T | GRCh38 |
| NC_000006.11:g.66349752C>T , CM000668.1:g.66349752C>T | GRCh37 |
| NC_000006.10:g.66406473C>T | NCBI36 |
| NG_023443.1:g.72367G>A | |
| NG_023443.2:g.72367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.-414G>A MANE Select | ENSP00000424243.1:n.-414G>A | |
| ENST00000370621.7:c.-414G>A | ENSP00000359655.3:n.-414G>A | |
| ENST00000393380.6:c.-414G>A | ENSP00000377042.2:n.-414G>A | |
| ENST00000489873.1:n.114G>A | ||
| ENST00000503581.5:c.-414G>A | ENSP00000424243.1:n.-414G>A | |
| NM_001142800.1:c.-414G>A | NP_001136272.1:n.-414G>A | |
| NM_001142801.1:c.-414G>A | NP_001136273.1:n.-414G>A | |
| NM_001292009.1:c.-414G>A | NP_001278938.1:n.-414G>A | |
| NM_001142800.2:c.-414G>A MANE Select | NP_001136272.1:n.-414G>A | |
| NM_001142801.2:c.-414G>A | NP_001136273.1:n.-414G>A | |
| NM_001292009.2:c.-414G>A | NP_001278938.1:n.-414G>A |